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the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders (20)
xanthomatosis1900

a metabolic disorder marked by the accumulation of excess lipid and by the presence of multiple and wide-spread xanthoma.

Tay-Sachs1907

Used attributively and absol. with reference to a fatal inherited metabolic disorder in which an enzyme deficiency causes accumulation of a…

ketosis1917

A condition characterized by an increased production of ketone bodies, which is associated with a predominance of fat metabolism and with diabetes.

protein shock1917

(a) (more fully protein shock therapy) the parenteral administration of a foreign protein so as to produce a physiological state of shock, used…

hyperinsulinism1924

a condition in which the body produces excessive insulin, usually as a result of a tumour of the islets of Langerhans in the pancreas; the presence…

Niemann–Pick1928

attributive, in the genitive, and (rare) with of. Designating, relating to, or suffering from any of a group of inherited (autosomal recessive)…

tyrosinosis1932

A rare condition of unknown ætiology in which there is increased excretion of the early metabolites of tyrosine but no liver or kidney damage; also…

von Gierke's disease1933

Used in the possessive (usually as von Gierke's disease) and occasionally attributively to designate a type of glycogen storage disease (described…

phenylketonuria1935

An inherited (autosomal recessive) disorder of amino acid metabolism in which deficiency of the enzyme phenylalanine 4-monooxygenase leads to…

cystic fibrosis1938

= mucoviscidosis n. at muco-, comb._form affix.

mucoviscidosis1945

= cystic fibrosis n. at cystic, adj. 3b.

cystinosis1949

An inborn error of metabolism resulting in the accumulation of cystine in the body.

oxalosis1952

either of two inherited (autosomal recessive) metabolic disorders in which there is excessive oxalate excretion in the urine, with deposition of…

McArdle1957

attributive and in the genitive. Designating an inherited (autosomal recessive) disorder of skeletal muscle in which deficiency of the enzyme…

orotic aciduria1959

Excessive excretion of orotic acid in the urine; spec. a genetic (autosomal recessive) disorder of pyrimidine metabolism in humans, in which…

PKU1961

phenylketonuria.

sphingolipidosis1962

(see quot. 1962).

Reye's syndrome1965

In the genitive and attributive, esp. in Reye's syndrome. Designating a potentially fatal disorder which typically occurs in children following a…

Menkes1969

In the genitive. Menkes' disease n. = maple syrup urine disease n. at maple, n.1 compounds 1c. Similarly Menkes' syndrome. rare.

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